S‐adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review
Abstract Phospho‐ribosyl‐pyrophosphate synthetase 1 (PRPS1) deficiency is secondary to loss of function variants in PRPS1. This enzyme generates phospho‐ribosyl‐pyrophosphate (PRPP), which is utilized in the synthesis of purines, nicotinamide adenine dinucleotide (NAD), and NAD phosphate (NADP), amo...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-11-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12395 |
| _version_ | 1797640024564432896 |
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| author | Angela Lee Renatta Knox Margaret Reynolds Erin McRoy Hoanh Nguyen |
| author_facet | Angela Lee Renatta Knox Margaret Reynolds Erin McRoy Hoanh Nguyen |
| author_sort | Angela Lee |
| collection | DOAJ |
| description | Abstract Phospho‐ribosyl‐pyrophosphate synthetase 1 (PRPS1) deficiency is secondary to loss of function variants in PRPS1. This enzyme generates phospho‐ribosyl‐pyrophosphate (PRPP), which is utilized in the synthesis of purines, nicotinamide adenine dinucleotide (NAD), and NAD phosphate (NADP), among other metabolic pathways. Arts syndrome, or severe PRPS1 deficiency, is an X‐linked condition characterized by congenital sensorineural hearing loss, optic atrophy, developmental delays, ataxia, hypotonia, and recurrent infections that can cause progressive clinical decline, often resulting in death before 5 years of age. Supplementation of the purine and NAD pathways outside of PRPP‐dependent reactions is a logical approach and has been reported in a handful of patients, two with S‐adenosylmethionine (SAMe) and one with SAMe and nicotinamide riboside (NR). We present the clinical course of a fourth Arts syndrome patient who was started on therapy and review previously reported patients. All patients had stability or improvement of symptoms, suggesting that SAMe and NR can be a treatment option in Arts syndrome, though further studies are warranted. |
| first_indexed | 2024-03-11T13:25:59Z |
| format | Article |
| id | doaj.art-f4215bb5b6d6428aaa4b3f1ab9d236a2 |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-03-11T13:25:59Z |
| publishDate | 2023-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | JIMD Reports |
| spelling | doaj.art-f4215bb5b6d6428aaa4b3f1ab9d236a22023-11-03T07:45:49ZengWileyJIMD Reports2192-83122023-11-0164641742310.1002/jmd2.12395S‐adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature reviewAngela Lee0Renatta Knox1Margaret Reynolds2Erin McRoy3Hoanh Nguyen4Department of Pediatrics, Division of Genetics and Genomic Medicine Washington University Saint Louis Missouri USADepartment of Pediatrics and Neurology Washington University Saint Louis Missouri USADepartments of Pediatrics, Division of Ophthalmology Washington University Saint Louis Missouri USADepartment of Pediatrics, Division of Genetics and Genomic Medicine Washington University Saint Louis Missouri USADepartment of Pediatrics, Division of Genetics and Genomic Medicine Washington University Saint Louis Missouri USAAbstract Phospho‐ribosyl‐pyrophosphate synthetase 1 (PRPS1) deficiency is secondary to loss of function variants in PRPS1. This enzyme generates phospho‐ribosyl‐pyrophosphate (PRPP), which is utilized in the synthesis of purines, nicotinamide adenine dinucleotide (NAD), and NAD phosphate (NADP), among other metabolic pathways. Arts syndrome, or severe PRPS1 deficiency, is an X‐linked condition characterized by congenital sensorineural hearing loss, optic atrophy, developmental delays, ataxia, hypotonia, and recurrent infections that can cause progressive clinical decline, often resulting in death before 5 years of age. Supplementation of the purine and NAD pathways outside of PRPP‐dependent reactions is a logical approach and has been reported in a handful of patients, two with S‐adenosylmethionine (SAMe) and one with SAMe and nicotinamide riboside (NR). We present the clinical course of a fourth Arts syndrome patient who was started on therapy and review previously reported patients. All patients had stability or improvement of symptoms, suggesting that SAMe and NR can be a treatment option in Arts syndrome, though further studies are warranted.https://doi.org/10.1002/jmd2.12395Arts syndromenicotinamide ribosidephosphoribosylpyrophosphatePRPPPRPS1S‐adenosylmethionine |
| spellingShingle | Angela Lee Renatta Knox Margaret Reynolds Erin McRoy Hoanh Nguyen S‐adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review JIMD Reports Arts syndrome nicotinamide riboside phosphoribosylpyrophosphate PRPP PRPS1 S‐adenosylmethionine |
| title | S‐adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review |
| title_full | S‐adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review |
| title_fullStr | S‐adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review |
| title_full_unstemmed | S‐adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review |
| title_short | S‐adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review |
| title_sort | s adenosylmethionine and nicotinamide riboside therapy in arts syndrome a case report and literature review |
| topic | Arts syndrome nicotinamide riboside phosphoribosylpyrophosphate PRPP PRPS1 S‐adenosylmethionine |
| url | https://doi.org/10.1002/jmd2.12395 |
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